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Publications

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom.

Woof W. et al, (2024)

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

Hitti-Malin RJ. et al, (2024), Biomolecules, 14, 367 - 367

Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center

Kiraly P. et al, (2023), Biomolecules, 13, 1484 - 1484

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Park J. et al, (2023), Genet Med, 25

The Role of Inflammation in Age-Related Macular Degeneration—Therapeutic Landscapes in Geographic Atrophy

Borchert GA. et al, (2023), Cells, 12, 2092 - 2092

Combined central serous chorioretinopathy, hypermetropia, short axial length, chorioretinal folds, enlarged/thickened ocular coats, with varying association of scleral changes (CHAFES)

Downes SM. et al, (2023), BMC Ophthalmology, 23

Retinal Angiomatous Proliferation in a Patient with Retinitis Pigmentosa.

Kiraly P. et al, (2023), Genes (Basel), 14

New Imaging Technology for Simultaneous Multiwavelength-UWF Fundus Fluorescein Angiography and Indocyanine Green Angiography With Navigated Central and Peripheral SS-OCT.

Bravo FJV. et al, (2023), Ophthalmic surgery, lasers & imaging retina, 54, 401 - 410

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation

Kirkby J. et al, (2023), Genes, 14, 1193 - 1193

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).

Nguyen Q. et al, (2023), BMJ Open, 13

INCREASING EVIDENCE FOR THE SAFETY OF FOVEA-INVOLVING HALF-DOSE PHOTODYNAMIC THERAPY FOR CHRONIC CENTRAL SEROUS CHORIORETINOPATHY

Feenstra HMA. et al, (2023), Retina, 43, 379 - 388

Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy

Pearce E. et al, (2023), Vision (Switzerland), 7

Faricimab in neovascular AMD: first report of real-world outcomes in an independent retina clinic

Stanga PE. et al, (2023), Eye (Basingstoke)

Morphological and functional parameters in X-linked retinoschisis patients–A multicentre retrospective cohort study

Kiraly P. et al, (2023), Frontiers in Medicine, 10

Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.

Thomas-Black G. et al, (2022), Mov Disord

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.

Chrystal PW. et al, (2022), Nat Commun, 13

A nationwide survey of hydroxychloroquine retinopathy presenting to the hospital eye service in the United Kingdom

YUSUF I. et al, (2022), Eye

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

Feenstra HM. et al, (2022), Genes, 13, 1423 - 1423

An update on long-acting therapies in chronic sight-threatening eye diseases of the posterior segment: AMD, DMO, RVO, uveitis and glaucoma.

Ghanchi F. et al, (2022), Eye (Lond), 36, 1154 - 1167

Spontaneous Resolution of Chronic Central Serous Chorioretinopathy: "Fuji Sign".

Feenstra HMA. et al, (2022), Ophthalmology. Retina

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